Diagnostic: Neurology, Metabolic or Genetic Services only.Cascade: Genetic Services only
Genetic Health Service NZ can be contacted on 0800 476 123.
Neurology can be contacted on (09) 307 4949 ext. 25662.
Specimen Collection 4 mL Paediatric EDTA Blood (Preferred)
For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)
Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.
For testing of other sample types please contact the laboratory prior to sending.
8 mL Adult EDTA Blood Turnaround Time: Within 13 weeks Contact Information
Contact Molecular Genetics via:
Lablink ext 22000
Mark Greenslade (Technical Head) ext 22010
Pippa Grainger (Section leader) ext 22014
X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males. The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within two years. The second phenotype, adrenomyeloneuropathy (AMN), manifests most commonly in the late twenties as progressive paraparesis, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. The third phenotype, "Addison disease only," presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly AMN) usually develops later. Approximately 20% of females who are carriers develop neurologic manifestations that resemble AMN but have later onset (greater than or equal to 35 years of age) and milder disease than do affected males.
The diagnosis of X-ALD is based on clinical findings. MRI is always abnormal in males with neurologic symptoms and often provides the first diagnostic lead. Plasma concentration of very long chain fatty acids (VLCFA) is abnormal in 99% of males with X-ALD. Increased concentration of VLCFA in plasma and/or cultured skin fibroblasts is present in approximately 85% of affected females; 20% of known carriers have normal plasma concentration of VLCFA.
Molecular genetic testing of ABCD1 , the only gene known to be associated with X-ALD, is available at Labplus.
For more information about the Molecular Genetics service:
Molecular Genetics information page